Variant report

Variant	rs619125
Chromosome Location	chr10:6560727-6560728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6554252..6556682-chr10:6558816..6560926,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2387407	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs510745	1.00[AFR][1000 genomes]
rs563798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586355	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs606289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs627715	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs657701	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs676674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
2	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:6546800-6561200	Weak transcription	HMEC	breast
4	chr10:6549800-6562400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:6550400-6562600	Weak transcription	Brain Substantia Nigra	brain
6	chr10:6550600-6562400	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:6553200-6561200	Weak transcription	NHEK	skin
8	chr10:6553200-6571400	Weak transcription	Pancreas	Pancrea
9	chr10:6556400-6563400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:6556800-6561200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:6556800-6561200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:6557000-6560800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:6557200-6561800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:6557200-6562200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:6557400-6582400	Weak transcription	Dnd41	blood
16	chr10:6557800-6561800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr10:6557800-6563400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr10:6558000-6561200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr10:6558200-6561800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:6558200-6562200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:6558200-6562400	Enhancers	Primary T cells from cord blood	blood
22	chr10:6558400-6563000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr10:6558400-6563200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr10:6558400-6563400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr10:6558800-6579400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr10:6559000-6561200	Weak transcription	Thymus	Thymus
27	chr10:6559200-6561200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:6559800-6561200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr10:6560000-6561000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:6560000-6561000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr10:6560000-6562400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr10:6560000-6562800	Weak transcription	K562	blood
33	chr10:6560200-6561200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:6560200-6561200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:6560200-6561200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:6560200-6561400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:6560200-6562400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:6560400-6560800	Weak transcription	Fetal Thymus	thymus
39	chr10:6560600-6560800	Genic enhancers	Primary T cells fromperipheralblood	blood

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